Canonical Allele Identifier: CA364720095

Gene: SLC17A5

Linked Data

• gnomAD v4: 6-73600434-C-T
• MyVariant Identifiers: chr6:g.74310157C>T (hg19) ; chr6:g.73600434C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73600434C>T , CM000668.2:g.73600434C>T	GRCh38
NC_000006.11:g.74310157C>T , CM000668.1:g.74310157C>T	GRCh37
NC_000006.10:g.74366878C>T	NCBI36
NG_008272.1:g.58581G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355773.6:c.1267G>A MANE Select	ENSP00000348019.5:p.Gly423Ser
ENST00000355773.5:c.1267G>A	ENSP00000348019.5:p.Gly423Ser
NM_012434.4:c.1267G>A	NP_036566.1:p.Gly423Ser
XM_005248710.2:c.1216G>A	XP_005248767.1:p.Gly406Ser
XM_005248711.1:c.1069G>A	XP_005248768.1:p.Gly357Ser
XM_011535750.1:c.1119G>A	XP_011534052.1:p.Leu373=
NM_012434.5:c.1267G>A MANE Select	NP_036566.1:p.Gly423Ser
NM_001382629.1:c.1036G>A	NP_001369558.1:p.Gly346Ser
NM_001382630.1:c.1260-5220G>A	NP_001369559.1:n.1260-5220G>A
NM_001382631.1:c.1288G>A	NP_001369560.1:p.Gly430Ser
NM_001382632.1:c.1180G>A	NP_001369561.1:p.Gly394Ser
NM_001382633.1:c.1267G>A	NP_001369562.1:p.Gly423Ser
NM_001382634.1:c.1108G>A	NP_001369563.1:p.Gly370Ser
NM_001382635.1:c.1264G>A	NP_001369564.1:p.Gly422Ser
NM_001382636.1:c.949G>A	NP_001369565.1:p.Gly317Ser